Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Population
2.2. Mutation Analysis of SCN3B
2.3. Bioinformatics-Based Prediction
2.4. Clones and Site-Directed Mutagenesis
2.5. Dual Luciferase Reporter Assays
2.6. Western Blotting
2.7. RNA Isolation and Quantitative RT-PCR
2.8. Statistical Analysis
3. Results
3.1. Identification of Two Novel Susceptibility Mutations in SCN3B
3.2. Transcriptional Activity and Expression Level Enhanced in the Alternative a Allele of Rare Variant c.-324C>A (rs976125894)
3.3. c.-324C>A Variant (rs976125894) Regulates the Expression of SCN3B through Interacting with Transcription Factor GATA4
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Primer | Sequence | |
---|---|---|
rs976125894 (Sanger) | F | CCCCACTGGACCTCCCCAGT |
R | GATTCCAGTCGGAACGCAAC | |
rs976125894 (HRM) | F | CCTCCCCAGTTCGAGGGAGC |
R | CCACAGCCTGGCTGCTAGGC | |
rs1284768362 (Sanger) | F | CCCAGGGGGCGACTTTCTGA |
R | GAACGCAACCGATCCTGGGGA | |
rs1284768362 (HRM) | F | CCGATCAGCCGCTCCGCGCC |
R | AGCAGTGCGACTCCCTTCCGA |
Target | Sequence | |
---|---|---|
18S rRNA | F | CTCACTGAGGATGAGGTGG |
R | GTTCAAGAACCAGTCTGGGA | |
β-actin | F | GAAGATCAAGATCATTGCTCCTC |
R | ATCCACATCTGCTGGAAGG | |
SCN3B | F | TCTACTGGGTCAGTGTCTG |
R | CTTCATGCAGGAGATGCAG | |
GATA4 | F | AGATGCGTCCCATCAAGAC |
R | CAGAGGCATTCAGGATGTG | |
WT1 | F | CGTTTCTCACTGGTCTCAG |
R | ATCCTCCGAACCCAAAAGCC | |
IKZF1 | F | AAGTTTCAGGGAAGGAAAGC |
R | CTCTTGGAGCTTTGCTGTC |
Demographic and Clinical Feature | AF Population |
---|---|
Number of study subjects | 355 |
Gender (number of females and %) | 145 (40.85%) |
Age (mean ± SD years) | 44.05 ± 12.85 |
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Lin, L.; Li, K.; Tian, B.; Jia, M.; Wang, Q.; Xu, C.; Xiong, L.; Wang, Q.; Zeng, Y.; Wang, P. Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation. Life 2022, 12, 1794. https://doi.org/10.3390/life12111794
Lin L, Li K, Tian B, Jia M, Wang Q, Xu C, Xiong L, Wang Q, Zeng Y, Wang P. Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation. Life. 2022; 12(11):1794. https://doi.org/10.3390/life12111794
Chicago/Turabian StyleLin, Liyan, Ke Li, Beijia Tian, Mengru Jia, Qianyan Wang, Chengqi Xu, Liang Xiong, Qing Wang, Yali Zeng, and Pengyun Wang. 2022. "Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation" Life 12, no. 11: 1794. https://doi.org/10.3390/life12111794